Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4.

Psychiatric genetics - 1 Jun 2024

Du Jun, Li Lin, Fu Dinghu

Abstract excerpt

BACKGROUND: Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental disorder. These variants have been identified in a group of children with neurodevelopmental disorders with microcephaly, arthrogryposis, and structural brain anomalies. SMPD4 encodes a sphingomyelinase that hydrolyzes sphingomyelin into ceramide at neutral pH and can thereby affect membrane lipid homeostasis....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis
Share to DNA Copy Number Variations
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Microcephaly

Share to Neurodevelopmental Disorders

Share to Prenatal Diagnosis

Share to Sphingomyelin Phosphodiesterase

Source

Identifiers

PMID: 38690959
DOI: 10.1097/YPG.0000000000000369

Genes

SMPD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4.PMID 38690959Read ↗

A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.Semantic proximity Read ↗

Genetic analysis of two heterozygous SMPD1 variants in a pediatric Niemann-Pick disease patientSemantic proximity Read ↗

Heterozygous Deletion of 10q24.31-q24.33: A New Syndrome Associated with Multiple Congenital AnomaliesSemantic proximity Read ↗

Molecular Genetic Analysis of Newborns with Congenital Microcephaly.Semantic proximity Read ↗

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.Semantic proximity Read ↗

Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.Semantic proximity Read ↗

Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC).Semantic proximity Read ↗

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.Semantic proximity Read ↗

Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.Semantic proximity Read ↗

The diagnostic yield of intellectual disability: Combined whole genome low-coverage sequencing and medical exome sequencingSemantic proximity Read ↗

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Niemann–Pick Disease Types A and BSemantic proximity Read ↗

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.