2022
DOI: 10.1055/a-1947-8411
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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families

Abstract: Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability and dysmorphic facial features. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant … Show more

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Cited by 4 publications
(3 citation statements)
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“… 22 While immunological workups have not been reported in other children with Alazami, there have been a few other reports of children with frequent ear infections and respiratory infections, which could suggest an associated inborn error of immunity. 18 , 23 LARP7 knockdown suppresses intracellular proliferation of intracellular Legionella bacterial infections, the effect on other bacteria more commonly involved in children's illnesses has not been well studied. 24 Further studies are required to link Alazami syndrome with possible humoral immune deficiency.…”
Section: Discussionmentioning
confidence: 99%
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“… 22 While immunological workups have not been reported in other children with Alazami, there have been a few other reports of children with frequent ear infections and respiratory infections, which could suggest an associated inborn error of immunity. 18 , 23 LARP7 knockdown suppresses intracellular proliferation of intracellular Legionella bacterial infections, the effect on other bacteria more commonly involved in children's illnesses has not been well studied. 24 Further studies are required to link Alazami syndrome with possible humoral immune deficiency.…”
Section: Discussionmentioning
confidence: 99%
“…Epilepsy: Our patient has not had any signs of epilepsy, but epilepsy has been diagnosed in many other cases of Alazami syndrome. 4 , 7 , 17 , 18 , 23 , 25 …”
Section: Discussionmentioning
confidence: 99%
“…A total of 52 pathogenic variants in the LARP7 gene have been identified in patients with Alazami syndrome 23 . Patients with Alazami syndrome exhibit very short telomeres, and LARP7 knockdown in cancer cells causes a reduction in telomerase activity and telomere shortening 21 .…”
mentioning
confidence: 99%