11p15.4 Microdeletion Associates with Hemihypertrophy

Puvabanditsin, Surasak; Sadiq, Mehrin; Jacob, Marianne; Jalil, Maaz; Cabrera, Kenya; Choudry, Omer; Mehta, Rajeev

doi:10.1155/2018/2746347

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2024

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“…A genetic evaluation revealed that confirmation of NPD type A was provided by a twofold change in the sequence encoding the SMPD1 gene, which was found on chromosome 11p15.4. The association between 11p15.4 microdeletion and hemihypertrophy was presented in a case reported by Puvabanditsin et al [ 11 ] that explains the associated neurological deficits among NPD cases. Later, the current case showed signs of respiratory infection.…”

Section: Discussionmentioning

confidence: 99%

Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child

Al Shahrani,

Asiri,

Alqarni

et al. 2024

Cureus

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Niemann-Pick disease (NPD) encompasses a minimum of three lysosomal storage diseases, all of which are inherited in an autosomal recessive manner. Acid sphingomyelinase (ASM) deficiency is the cause of NPD types A and B. ASM is the enzyme that hydrolyzes the sphingolipid sphingomyelin. An 18-month-old patient with progressive painless abdominal distension with organomegaly and neurological deficits presented to our hospital. Brain imaging and laboratory findings did not show anything, but there was a millstone growth delay. The diagnosis of NPD type A was confirmed by a genetic examination, which revealed a twofold change on chromosome 11p15.4 in the region encoding the sphingomyelin phosphodiesterase-1 (SMPD1) gene. The patient was followed up with no specific treatment, and signs of respiratory infections were later reported.

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Section: Discussionmentioning

confidence: 99%