KBG Syndrome in 16 Indian Individuals.

Autor: Bajaj S; The Purple Gene Clinic, Mumbai, India., Nampoothiri S; Amrita Institute of Medical Sciences and Research Centre, Kochi, India., Chugh R; The Purple Gene Clinic, Mumbai, India., Sheth J; FRIGE's Institute of Human Genetics, Ahmedabad, India., Sheth F; FRIGE's Institute of Human Genetics, Ahmedabad, India., Sheth H; FRIGE's Institute of Human Genetics, Ahmedabad, India., Narayan V; Rainbow Children's Hospital, Bengaluru, India., Deshpande A; Vikas Children Hospital, Palghar, India., Hegde A; NH SRCC Children's Hospital, Mumbai, India., Dwivedi A; Army Hospital Research and Referral, New Delhi, India., Yeshodharan D; Amrita Institute of Medical Sciences and Research Centre, Kochi, India., Khosla I; NH SRCC Children's Hospital, Mumbai, India., Mittal M; All India Institute of Medical Sciences, Jodhpur, India., Kore M; Shree Hospital, Nipani, India., Ramprasad V; MedGenome Labs Limited, Bengaluru, India., C AK; MedGenome Labs Limited, Bengaluru, India., Girisha KM; Suma Genomics Private Limited, Manipal, India.; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct 15, pp. e63907. Date of Electronic Publication: 2024 Oct 15.
DOI: 10.1002/ajmg.a.63907
Abstrakt: We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application. The most frequent clinical features observed in our cohort were as follows: learning and intellectual disability-14/15 (93%), skeletal abnormalities-14/15 (93%), postnatal short stature-13/15 (87%), brachydactyly-11/15 (73%), and characteristic facial appearance-13/15 (87%). We identified 12 single nucleotide variants (SNVs), including six recurrent and six novel variants, and a copy number variant in the 16q24.3 region encompassing ANKRD11 gene. The novel variants were as follows: p.(Gln1236Ter), p.(Asp884ThrfsTer93), p.(Arg1466GlyfsTer87), p.(Tyr2056Ter), p.(Leu955TrpfsTer22), and p.(Lys766ArgfsTer10). The identified SNVs in ANKRD11 clustered around exon 9. We observed a high concordance of Face2Gene in predicting KBGS.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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