Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review

• Published in: BMC medical genomics Vol. 17; no. 1; pp. 222 - 8
• Main Authors: Yang, Xueting, Li, Mengmeng, Qi, Qingwei, Zhou, Xiya, Hao, Na, Lü, Yan, Jiang, Yulin
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 29-08-2024; BioMed Central; BMC
• Subjects: Abdomen; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adult; Analysis; Case Report; Chromosome 14; Chromosome deletion; Chromosomes; Chromosomes, Human, Pair 14 - genetics; DNA methylation; Epigenetics; Facies; Female; Fetuses; Gene deletion; Gene polymorphism; Genes; Genetic analysis; Genetic screening; Genomic Imprinting; Gestational age; Hallux - abnormalities; Humans; Imprinting disorder; Imprinting Disorders; Intellectual Disability; Kagami–Ogata syndrome; Literature reviews; Muscle Hypotonia; Nails, Malformed; Phenotypes; Polymorphism, Single Nucleotide; Pregnancy; Pregnant women; Prenatal Diagnosis; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Single-nucleotide polymorphism array; Thumb - abnormalities; Ultrasonic imaging; Prenatal diagnosis; Kagami–Ogata syndrome; Imprinting disorder; Single-nucleotide polymorphism array
• ISSN: 1755-8794; 1755-8794
• DOI: 10.1186/s12920-024-01987-4

Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are two imprinting disorders characterized by the absence or reduced expression of maternal or paternal genes in the chromosome 14q32 region, respectively. We present a rare prenatally diagnosed case of recurrent KOS inherited from a mother affected by TS.
The woman's two affected pregnancies exhibited recurrent manifestations of prenatal overgrowth, polyhydramnios, and omphalocele, as well as a small bell-shaped thorax with coat-hanger ribs postnatally. Prenatal genetic testing using a single-nucleotide polymorphism array detected a 268.2-kb deletion in the chromosome 14q32 imprinted region inherited from the mother, leading to the diagnosis of KOS. Additionally, the woman carried a de novo deletion in the paternal chromosome 14q32 imprinted region and presented with short stature and small hands and feet, indicating a diagnosis of TS.
Given the rarity of KOS as an imprinting disorder, accurate prenatal diagnosis of this rare imprinting disorder depends on two factors: (1) increasing clinician recognition of the clinical phenotype and related genetic mechanism, and (2) emphasizing the importance of imprinted regions in the CMA workflow for laboratory analysis.