{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:57:37Z","timestamp":1777694257520,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Case Rep"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic basis, and rare X-linked variants may contribute to its pathogenesis, particularly in consanguineous families. We present 2 pediatric cases from related Turkish families carrying a novel hemizygous DRP2 stop-gain mutation (p.Q232X). Case 1, a 5-year-old male, presented with ASD, macrocephaly, hypotonia, chronic otitis media with conductive hearing loss, and a mild demyelinating polyneuropathy confirmed electrophysiologically. Case 2, a 7-year-old male cousin, showed developmental delay, hyperactivity, bilateral cryptorchidism, and recurrent otitis media with hearing loss. Whole-exome sequencing identified the same DRP2 mutation in both patients, classified as likely pathogenic. Case 1 additionally carried heterozygous variants of uncertain significance in COL4A2 and MFN2. Multidisciplinary management included behavioral, speech, occupational, and physical therapies, as well as tympanostomy and orchiopexy. Longitudinal follow-up showed improved communication, motor function, and hearing, with stable neuropathy in Case 1. This report introduces a potentially novel role of DRP2 in ASD, extending its phenotypic spectrum beyond neuropathy, and underscores the need for further cases to define genotype\u2013phenotype heterogeneity. Recognition of this variant is clinically relevant for genetic counseling in consanguineous populations, where risks extend beyond neuropathy to include broader neurodevelopmental outcomes.<\/jats:p>","DOI":"10.1177\/11795476251383753","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T07:40:29Z","timestamp":1760600429000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients"],"prefix":"10.1177","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-3747-6260","authenticated-orcid":false,"given":"Hajira","family":"Karim","sequence":"first","affiliation":[{"name":"Istanbul Medipol University, International School of Medicine, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lima","family":"Oria","sequence":"additional","affiliation":[{"name":"Istanbul Medipol University, International School of Medicine, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asl\u0131","family":"G\u00fcner \u00d6zt\u00fcrk Demir","sequence":"additional","affiliation":[{"name":"Istanbul Medipol University, International School of Medicine, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhsin","family":"Elmas","sequence":"additional","affiliation":[{"name":"Istanbul Medipol University, International School of Medicine, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2499-4874","authenticated-orcid":false,"given":"Amogh","family":"Verma","sequence":"additional","affiliation":[{"name":"SR Sanjeevani Hospital, Kalyanpur, Siraha, Nepal"},{"name":"Department of Internal Medicine, Rama Medical College Hospital and Research Centre, Pilkhuwa, Hapur, Uttar Pradesh, India"},{"name":"Medicos in Research, Nautanwa, Maharajganj, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,10,16]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31129-2"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2019.1411"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2016.00065"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-03078-7"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40473-014-0023-0"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.59628\/jchm.v2i1.303"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00407.x"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8027.2002.02001.x"},{"issue":"7","key":"e_1_3_3_10_2","article-title":"Expanding the clinical spectrum of DRP2-associated Charcot-Marie-Tooth disease","volume":"102","author":"Sivera R","year":"2024","unstructured":"Sivera R, Pelayo-Negro AL, Jeric\u00f3 I, et al. Expanding the clinical spectrum of DRP2-associated Charcot-Marie-Tooth disease. 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