{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T07:05:29Z","timestamp":1763535929633,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,11,23]],"date-time":"2021-11-23T00:00:00Z","timestamp":1637625600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Backgrounds<\/jats:title><jats:p>Microvillus inclusion disease (MVID) characterizes as intractable life\u2010threatening watery diarrhea malnutrition after birth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials\u00a0&amp; Methods<\/jats:title><jats:p>Here we describe two patients with prenatal ultrasound findings of bowel dilation or increased amniotic fluid volume presented intractable diarrhea after birth. Exome sequencing and Intestinal biopsy were performed for the patients and their parents to reveal the underlying causes. The mutations were verified by Sanger sequencing and quantitative polymerase chain reaction.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Exome sequencing revealed that both of the patients carrying MYO5B compound heterozygote mutations that were inherited from their parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Here we describe two cases with MVID caused by <jats:italic>MYO5B<\/jats:italic> deficiency, which was the most common caused with prenatal ultrasound findings of bowel dilation and increased amniotic fluid volume. Due to the lack of effective curative therapies, early diagnosis even in prenatal of MVID can provide parents with better genetic counseling on the fetal prognosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6068","type":"journal-article","created":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T07:19:48Z","timestamp":1637738388000},"page":"136-140","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Two cases of microvillus inclusion disease caused by <i>MYO5B<\/i> deficiency with prenatal abnormalities"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1193-0820","authenticated-orcid":false,"given":"Jiaqi","family":"Lu","sequence":"first","affiliation":[{"name":"Medical Genetics Centre Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiming","family":"Qi","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongke","family":"Ding","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0324-5260","authenticated-orcid":false,"given":"Aihua","family":"Yin","sequence":"additional","affiliation":[{"name":"Medical Genetics Centre Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,11,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199205000-00003"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23386"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(78)90458-4"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.12.6.1843"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.08.025"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22440"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-198710000-00001"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1360163"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2017.1397123"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2006.02.005"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001139"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-020-01251-2"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E18-07-0415"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000355"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2020.06.008"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6068","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6068","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T14:10:48Z","timestamp":1693231848000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,23]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/pd.6068"],"URL":"https:\/\/doi.org\/10.1002\/pd.6068","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2021,11,23]]},"assertion":[{"value":"2021-04-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}