TY - JOUR
T1 - Further phenotypic delineation of Alazami syndrome
AU - Al-Hinai, Abdulhamid
AU - Al-Hashmi, Samiya
AU - Ganesh, Anuradha
AU - Al-Hashmi, Nadia
AU - Al-Saegh, Abeer
AU - Al-Mamari, Watfa
AU - Al-Murshedi, Fathiya
AU - Al-Thihli, Khalid
AU - Al-Kindi, Adila
AU - Al-Maawali, Almundher
N1 - Publisher Copyright:
© 2022 Wiley Periodicals LLC.
© 2022 Wiley Periodicals LLC.
PY - 2022/5/14
Y1 - 2022/5/14
N2 - Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the LARP7, encoding a chaperone of 7SK noncoding RNA, is implicated in this disease. There are <35 reported cases in the literature. All reported cases share the same three cardinal features of the syndrome. Herein, we report on 12 patients with a confirmed diagnosis of AS from eight unrelated families. The cohort shares the same key feature of the syndrome. Moreover, we report additional phenotypic features, including genito-renal anomalies, ophthalmological abnormalities, and congenital heart disease. Whole-exome sequencing was used in all reported cases, implicating a clinical under-recognition of the syndrome. This report further expands the clinical and molecular characteristics of Alazami syndrome.
AB - Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the LARP7, encoding a chaperone of 7SK noncoding RNA, is implicated in this disease. There are <35 reported cases in the literature. All reported cases share the same three cardinal features of the syndrome. Herein, we report on 12 patients with a confirmed diagnosis of AS from eight unrelated families. The cohort shares the same key feature of the syndrome. Moreover, we report additional phenotypic features, including genito-renal anomalies, ophthalmological abnormalities, and congenital heart disease. Whole-exome sequencing was used in all reported cases, implicating a clinical under-recognition of the syndrome. This report further expands the clinical and molecular characteristics of Alazami syndrome.
KW - Alazami syndrome
KW - autosomal recessive
KW - intellectual disability
KW - LARP7
KW - Microcephaly/genetics
KW - Humans
KW - Dwarfism/genetics
KW - Syndrome
KW - Phenotype
KW - Ribonucleoproteins/genetics
KW - Intellectual Disability/diagnosis
KW - RNA, Small Nuclear
KW - Mutation
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UR - https://www.mendeley.com/catalogue/b9bcc5f1-31f7-36b6-803f-8f16f7038403/
U2 - 10.1002/ajmg.a.62778
DO - 10.1002/ajmg.a.62778
M3 - Article
C2 - 35567578
AN - SCOPUS:85129926595
SN - 1552-4825
VL - 188
SP - 2485
EP - 2490
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -