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Zpráva o onemocněních · Neurological

KAT6B-Related Disorders

Whole genome sequencing reads the KAT6B gene for the changes that cause KAT6B-related disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome, which cause intellectual disability and birth differences.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A spectrum of rare developmental conditions, including Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome, causing intellectual disability and birth differences. They are caused by new changes in the KAT6B gene, which regulates gene activity.

KAT6B-related disorders are a spectrum of rare developmental conditions. They include genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome, which often share developmental delay or intellectual disability, low muscle tone and skeletal differences.

The condition is caused by changes in one copy of KAT6B, a histone acetyltransferase that controls gene activity during development. Where in the gene the change falls influences which features occur, and most reported changes arise as new changes in the affected person.

Genitopatellar syndrome often includes missing or underdeveloped kneecaps, joint contractures, genital differences and brain and kidney anomalies. SBBYS syndrome often includes narrow, droopy eyelids, a mask-like face, and long thumbs and big toes. Heart defects, hearing loss and dental problems can occur in either.

Care includes thyroid, heart, kidney, hearing and eye checks, eyelid surgery where needed, and early intervention for developmental support. Parental testing and genetic counselling help estimate recurrence risk.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by changes in one copy of KAT6B, a histone acetyltransferase that controls gene activity during development. The reported changes arise de novo, and where in the gene they fall influences which features occur.

Příznaky a projevy

Developmental delay and intellectual disability with low muscle tone are common to all forms. In Say-Barber-Biesecker-Young-Simpson syndrome there are narrow, droopy eyelids, a mask-like face, long thumbs and great toes and small or absent kneecaps. In genitopatellar syndrome there are absent kneecaps, joint contractures, genital differences and brain and kidney anomalies. Less often there are heart defects, hearing loss or dental problems.

Co se diagnózou změní

Thyroid function testing, heart, kidney, hearing and eye assessment, eyelid surgery where needed and developmental support. Reported cases arise de novo, but parental testing and genetic counselling help estimate recurrence risk.

Analyzované geny

MONDO:0036042Orphanet 597749MedGen 1843234Zdroje: [1][3][4]

Proč sekvenování celého genomu

KAT6B disorders usually arise from new changes, but parental testing and counselling still help estimate recurrence risk. Whole genome sequencing reads KAT6B in one test.

One gene, two syndromes

Genitopatellar syndrome and SBBYS syndrome result from different KAT6B changes, and where the change falls in the gene influences which features occur. Some features, such as intellectual disability and heart defects, are common to both.

Early therapy and yearly checks

Referral to early intervention for occupational, physical, speech and feeding therapy is recommended from infancy. Development, feeding, hearing, thyroid function and contractures are reviewed every year.

Reference

  1. Lemire G, Campeau PM, Lee BH, 2012. KAT6B Disorders. GeneReviews
  2. KAT6B gene. MedlinePlus Genetics
  3. Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA et al., 2013. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human mutation
  4. Maglione V, Pizzuti A, Mastromoro G, Cresta E, Favata P, Digilio MC et al., 2025. Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature. American journal of medical genetics. Part A

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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