Bosley–Salih–Alorainy syndrome in patients from India

Siddaramappa J. Patil; Gadabanahalli Ashok Karthik; Gandham Sri Lakshmi Bhavani; Venkatraman Bhat; Jyoti Matalia; Jhanvi Shah; Anju Shukla; Katta Mohan Girisha

doi:10.1002/ajmg.a.61809

Bosley–Salih–Alorainy syndrome in patients from India

Siddaramappa J. Patil^*
, Gadabanahalli Ashok Karthik
, Gandham Sri Lakshmi Bhavani
, Venkatraman Bhat
, Jyoti Matalia
, Jhanvi Shah
, Anju Shukla
, Katta Mohan Girisha

^*Corresponding author for this work

Department of Medical Genetics, Kasturba Medical College, Manipal

Research output: Contribution to journal › Article › peer-review

6 Citations (Scopus)

Abstract

Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley–Salih–Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants.

Original language	English
Pages (from-to)	2699-2703
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	182
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.61809
Publication status	Published - 01-11-2020

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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title = "Bosley–Salih–Alorainy syndrome in patients from India",

abstract = "Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley–Salih–Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants.",

author = "Patil, \{Siddaramappa J.\} and Karthik, \{Gadabanahalli Ashok\} and Bhavani, \{Gandham Sri Lakshmi\} and Venkatraman Bhat and Jyoti Matalia and Jhanvi Shah and Anju Shukla and Girisha, \{Katta Mohan\}",

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AU - Patil, Siddaramappa J.

AU - Karthik, Gadabanahalli Ashok

AU - Bhavani, Gandham Sri Lakshmi

AU - Bhat, Venkatraman

AU - Matalia, Jyoti

AU - Shah, Jhanvi

AU - Shukla, Anju

AU - Girisha, Katta Mohan

PY - 2020/11/1

Y1 - 2020/11/1

N2 - Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley–Salih–Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants.

AB - Bi-allelic HOXA1 pathogenic variants clinically manifest as two distinct syndromes, Bosley–Salih–Alorainy syndrome (BSAS) and Athabascan brainstem dysgenesis syndrome, mainly reported in two different populations from Saudi Arabia and southwest North America, respectively. Here we report two siblings of Indian origin with BSAS phenotype caused by a novel homozygous exon 2 HOXA1 pathogenic variants.

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UR - https://www.scopus.com/pages/publications/85089993383#tab=citedBy

U2 - 10.1002/ajmg.a.61809

DO - 10.1002/ajmg.a.61809

M3 - Article

AN - SCOPUS:85089993383

SN - 1552-4825

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

Bosley–Salih–Alorainy syndrome in patients from India

Abstract

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