مراجَع تحريريًا · kw-cleft-exome-consanguineous-families-2026
Kuwait Cleft Lip/Palate Exome Study in Consanguineous Families
العنوان في المستودع: Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing
Exome sequencing and variant interpretation across 20 consanguineous Kuwaiti families with cleft lip with or without cleft palate; reported candidate genes include LRRC32, SH3PXD2A, DUOX1, MSX2 and ACACB.
01 / نظرة عامة على المشروع
ما الذي يثبته السجل.
- النطاق الجغرافي
- Kuwait; 20 consanguineous families with cleft lip with or without cleft palate
- نوع المشروع
- clinical exome sequencing study
- مجال البحث
- craniofacial genetics and rare-variant exome sequencing
- السنوات
- 2025–2025
- حالة المشروع
- Published study
- أساس تحديد الحالة
- Peer-reviewed article first published online 3 October 2025; assigned to American Journal of Medical Genetics Part A 200(2), February 2026.
- تاريخ دليل الحالة
- 2025-10-03
- الحجم
- 20 consanguineous Kuwaiti families.
02 / المؤسسات والمجتمع
من وما الذي يربطه المشروع.
- الجهات القائدة
- Cleft and Craniofacial Unit, Ministry of Health, Kuwait · Department of Biological Sciences, Kuwait University · Kuwait Medical Genetic Center, Ministry of Health, Kuwait
- الجهات الشريكة
- University of California San Francisco · Emory University School of Medicine · Cedars-Sinai Guerin Children's
- الكائن / المجتمع
- 20 consanguineous Kuwaiti families with syndromic and/or non-syndromic cleft lip with or without cleft palate
03 / البيانات والإتاحة
ما الموجود وكيف يمكن الوصول إليه.
أنواع البيانات
- exome sequencing
- variant interpretation
إتاحة البيانات
Peer-reviewed publication and supplementary figures/tables are public through the publisher; participant-level exome data are not public and are available on request subject to privacy/ethical restrictions.
المعرّفات
- DOI
10.1002/ajmg.a.64268 - PMID
41041957
04 / الدليل والمصدر
لماذا أُدرج هذا السجل.
أساس الإدراج
Publication-only Kuwait genomics study adjudicated distinct at high confidence from repository record ncbi-prjna1479176 because cohort, assay scope, gene target and public-data status differ materially.
ملاحظة تحريرية
Do not attach PRJNA1479176 or another sequence accession without direct evidence. This 20-family clinical study is not a Kuwait population-prevalence estimate or national programme, and participant-level exome data are not publicly downloadable.
المصادر
- peer-reviewed publication تم التحقق في 2026-09-05
- peer-reviewed publication تم التحقق في 2026-09-05
- institutional publication record تم التحقق في 2026-09-05
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