Alazami syndrome due to LARP7 gene mutation: Expanding the phenotype

Bajafar, A.; Rifai, Faisal; Al-Said, Youssef; Cupler, Edward

doi:10.1016/j.jns.2019.10.1326

Cited by 2 publications

(3 citation statements)

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“…Evaluation of behavior and communication skills revealed autistic spectrum disorder in two patients, one patient with ADHD and two patients with high anxiety and pain hypersensitivity levels. Stereotypic and repetitive behavior, Rett syndrome‐like hand‐wringing was observed in four patients, same as previously reported in the literature (Bajafar et al, 2019; Ling et al, 2016). Overall, patients had good eye contact, a happy demeanor, and behaved friendly, although they had significant language delay and cognitive disability.…”

Section: Resultssupporting

confidence: 88%

“…Initially, Hollink et al (2016) reported on two patients with normal birth growth parameters but developed failure to thrive at a later age. Thereafter, the description of these similar characteristics was reported in other studies (Bajafar et al, 2019; Das et al, 2021; Gana et al, 2020; Hollink et al, 2016; Ivanovski et al, 2020; Wojcik et al, 2019).…”

Section: Discussionsupporting

confidence: 75%

“…Since the initial description by Alazami and colleagues, many other cases from different ethnicities have been described in the literature (Bajafar et al, 2019; Das et al, 2021; Dateki et al, 2018; Elmas et al, 2019; Gana et al, 2020; Hollink et al, 2016; Holohan et al, 2016; Hosseini et al, 2019; Imbert‐Bouteille et al, 2019; Ivanovski et al, 2020; Kazemi et al, 2020; Ling et al, 2016; Wojcik et al, 2019). The phenotype has been revised as a syndromic cause of autosomal recessive intellectual disability with distinctive facial dysmorphology, variable progressive growth restriction, and significant speech and language delay.…”

Section: Introductionmentioning

confidence: 99%

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Further phenotypic delineation of Alazami syndrome

Al-Hinai

Al-Hashmi

Ganesh

et al. 2022

American J of Med Genetics Pt A

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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 genitorenal anomalies, ophthalmological abnormalities, and congenital heart disease.Whole-exome sequencing was used in all reported cases, implicating a clinical underrecognition of the syndrome. This report further expands the clinical and molecular characteristics of Alazami syndrome.

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Section: Resultssupporting

confidence: 88%

Section: Discussionsupporting

confidence: 75%

Section: Introductionmentioning

confidence: 99%

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Further phenotypic delineation of Alazami syndrome

Al-Hinai

Al-Hashmi

Ganesh

et al. 2022

American J of Med Genetics Pt A

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A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report

Fawzi,

Salim,

Qasim

et al. 2024

J Clin Med Exp Images

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Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.

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Alazami syndrome due to LARP7 gene mutation: Expanding the phenotype

Cited by 2 publications

References 0 publications

Further phenotypic delineation of Alazami syndrome

Further phenotypic delineation of Alazami syndrome

A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report

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