{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:03:33Z","timestamp":1793905413321,"version":"4.8.0"},"reference-count":23,"publisher":"BMJ","issue":"6","funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology","doi-asserted-by":"publisher","award":["BT\/PR20782\/MED\/12\/737\/2016"],"award-info":[{"award-number":["BT\/PR20782\/MED\/12\/737\/2016"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2019,2,25]]},"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>\n                    Adenylate kinase (AK) deficiency is a rare erythroenzymopathy associated with hereditary nonspherocytic haemolytic anaemia along with mental\/psychomotor retardation in few cases. Diagnosis of AK deficiency depends on the decreased level of enzyme activity in red cell and identification of a mutation in the\n                    <jats:italic>AK1<\/jats:italic>\n                    gene. Until, only eight mutations causing AK deficiency have been reported in the literature. We are reporting two novel missense mutation (c.71A &gt; G and c.413G &gt; A) detected in the\n                    <jats:italic>AK1<\/jats:italic>\n                    gene by next-generation sequencing (NGS) in a 6-year-old male child from India. Red cell AK enzyme activity was found to be 30% normal. We have screened a total of 32 family members of the patient and showed reduced red cell enzyme activity and confirm mutations by Sanger\u2019s sequencing. On the basis of Sanger sequencing, we suggest that the proband has inherited a mutation in\n                    <jats:italic>AK1<\/jats:italic>\n                    gene exon 4\u2009c.71A &gt; G (p.Gln24Arg) from paternal family and exon 6\u2009c.413G &gt; A (p.Arg138His) from maternal family. Bioinformatics tools, such as SIFT, Polymorphism Phenotyping v.2, Mutation Taster, MutPred, also confirmed the deleterious effect of both the mutations. Molecular modelling suggests that the structural changes induced by p.Gln24Arg and p.Arg138His are pathogenic variants having a direct impact on the structural arrangement of the region close to the active site of the enzyme. In conclusion, NGS will be the best solution for diagnosis of very rare disorders leading to better management of the disease. This is the first report of the red cell AK deficiency from the Indian population.\n                  <\/jats:p>","DOI":"10.1136\/jclinpath-2019-205718","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T06:52:42Z","timestamp":1553755962000},"page":"393-398","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A&gt;G and c.413G&gt;A)"],"prefix":"10.1136","volume":"72","author":[{"given":"Rashmi","family":"Dongerdiye","sequence":"first","affiliation":[{"name":"Department of Haematogenetics, National Institute of Immunohaematology, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranoti","family":"Kamat","sequence":"additional","affiliation":[{"name":"MCGM Comprehensive Thalassemia Care Pediatric Hematology-Oncology and Bone Marrow Transplantation Centre, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Punit","family":"Jain","sequence":"additional","affiliation":[{"name":"MCGM Comprehensive Thalassemia Care Pediatric Hematology-Oncology and Bone Marrow Transplantation Centre, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prashant","family":"Warang","sequence":"additional","affiliation":[{"name":"Department of Haematogenetics, National Institute of Immunohaematology, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rati","family":"Devendra","sequence":"additional","affiliation":[{"name":"Department of Haematogenetics, National Institute of Immunohaematology, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilesh","family":"Wasekar","sequence":"additional","affiliation":[{"name":"MCGM Comprehensive Thalassemia Care Pediatric Hematology-Oncology and Bone Marrow Transplantation Centre, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ratna","family":"Sharma","sequence":"additional","affiliation":[{"name":"MCGM Comprehensive Thalassemia Care Pediatric Hematology-Oncology and Bone Marrow Transplantation Centre, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ketaki","family":"Mhaskar","sequence":"additional","affiliation":[{"name":"MCGM Comprehensive Thalassemia Care Pediatric Hematology-Oncology and Bone Marrow Transplantation Centre, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manisha R","family":"Madkaikar","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamta V","family":"Manglani","sequence":"additional","affiliation":[{"name":"MCGM Comprehensive Thalassemia Care Pediatric Hematology-Oncology and Bone Marrow Transplantation Centre, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3509-2913","authenticated-orcid":false,"given":"Prabhakar S","family":"Kedar","sequence":"additional","affiliation":[{"name":"Department of Haematogenetics, National Institute of Immunohaematology, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,3,27]]},"reference":[{"key":"2025121403132512000_72.6.393.1","doi-asserted-by":"publisher","DOI":"10.1053\/beha.2000.0054"},{"key":"2025121403132512000_72.6.393.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exphem.2007.05.004"},{"key":"2025121403132512000_72.6.393.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1999.01297.x"},{"key":"2025121403132512000_72.6.393.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2004.06.002"},{"key":"2025121403132512000_72.6.393.5","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13166"},{"key":"2025121403132512000_72.6.393.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2014.01.014"},{"key":"2025121403132512000_72.6.393.7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0407459102"},{"key":"2025121403132512000_72.6.393.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)81779-3"},{"key":"2025121403132512000_72.6.393.9","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V77.12.2774.2774"},{"key":"2025121403132512000_72.6.393.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1994.tb04925.x"},{"key":"2025121403132512000_72.6.393.11","unstructured":"Dacie JV , Lewis SM , Haematology P . Practical haematology. 9th edn. London: Churchill Livingston, 2001."},{"key":"2025121403132512000_72.6.393.12","unstructured":"Beutler E . Red cell metabolism: a manual of biochemical methods Grune. New York, NY: Stratton Inc, 1984."},{"key":"2025121403132512000_72.6.393.13","doi-asserted-by":"publisher","DOI":"10.1046\/j.0141-9854.2003.00557.x"},{"key":"2025121403132512000_72.6.393.14","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-07-2288"},{"key":"2025121403132512000_72.6.393.15","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14221"},{"key":"2025121403132512000_72.6.393.16","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(91)90756-V"},{"key":"2025121403132512000_72.6.393.17","doi-asserted-by":"publisher","DOI":"10.1039\/C8CP01180J"},{"key":"2025121403132512000_72.6.393.18","doi-asserted-by":"publisher","DOI":"10.1016\/S1093-3263(97)00021-1"},{"key":"2025121403132512000_72.6.393.19","first-page":"7.20.1","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"Chapter 7","author":"Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet"},{"key":"2025121403132512000_72.6.393.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2013.05.006"},{"key":"2025121403132512000_72.6.393.21","doi-asserted-by":"crossref","first-page":"e105","DOI":"10.1515\/cclm-2014-0648","article-title":"Spectrum of red cell abnormalities in undiagnosed hemolytic anemias and methemoglobinemias: a single center experience","volume":"53","author":"Warang","year":"2015","journal-title":"Clin Chem Lab Med"},{"key":"2025121403132512000_72.6.393.22","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2018-205420"},{"key":"2025121403132512000_72.6.393.23","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.4953299.x"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2019-205718","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T11:13:35Z","timestamp":1765710815000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2019-205718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,27]]},"references-count":23,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2019,5,16]]},"published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1136\/jclinpath-2019-205718"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2019-205718","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,27]]}}}