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A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with...
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Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman
Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two...
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic...
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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
BackgroundThe deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 ...
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Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report
BackgroundWaardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying...
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CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most common inner ear malformation identified in patients with...
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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
PurposeSOX10 variants previously implicated in Waardenburg syndrome (WS) have now been linked to Kallmann syndrome (KS), the anosmic form of...
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Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review
BackgroundThe terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype–phenotype correlations. We reported...
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Hypogonadism
Male hypogonadism (HG) is a clinical syndrome that results from impaired testicular functions, steroidogenesis and gametogenesis and is consequently...
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Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss (HL), which accounts for...
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Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for...
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Endocrine Disorders
This chapter discusses the links between hormonal disorders and cerebellar symptoms. Cerebellar development depends on thyroid hormone (TH) which...
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Severity in the genomic age: the significance of lived experience to understandings of severity
This article explores the significance of lived experience to understandings of severity in the genomic age. It draws upon data from structured...
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Development and Developmental Disorders of the Forebrain
The forebrain comprises those structures that are derived from the most rostral part of the neural plate, i.e. the primary prosencephalon. The...
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Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome map**
The molecular basis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome remains largely unknown. Pathogenic variants in WNT4 and HNF1B have been...
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Hypothalamic-Pituitary-Gonadal Axis Disorders Impacting Fertility in Both Sexes and the Potential of Kisspeptin-Based Therapies to Treat Them
Impaired function of the hypothalamic-pituitary-gonadal (HPG) axis can lead to a vast array of reproductive disorders some of which are inherited or...
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Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism
PurposeIdiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing...
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How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism
Precision medicine requires precise genetic variant interpretation, yet many disease-associated genes have unresolved variants of unknown...
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BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes
ObjectiveTo evaluate the clinical value of BACs-on-Beads (BoBs) assay in detection of microdeletion and microduplication syndromes.
Methods ...