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Condition report · Neurological

Kaufman Oculocerebrofacial Syndrome (UBE3B)

Whole genome sequencing reads the UBE3B gene for the changes in both copies that cause Kaufman oculocerebrofacial syndrome, a neurodevelopmental condition with characteristic eye and facial features.

A condition report looks for rare variants known to cause the conditions it covers.

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About this condition

A rare neurodevelopmental disorder causing intellectual disability, a small head size and characteristic eye and facial features such as narrow, droopy eyelids. It is caused by changes in both copies of the UBE3B gene.

Kaufman oculocerebrofacial syndrome is a rare condition that causes developmental delay, severe intellectual disability and a distinctive face. Most affected children have a small head from before birth, low muscle tone and slow growth. Eye problems are common, and so are feeding difficulties, hearing loss and breathing problems that can lead to a long stay in hospital after birth.

It is caused by changes in both copies of UBE3B, which makes an enzyme in the ubiquitin system. This system tags unwanted proteins so the cell can break them down. Typical facial features include narrow eye openings, droopy eyelids and outer eye corners that point upwards. Seizures, heart differences and genital differences are less common.

It is inherited in an autosomal recessive way. When both parents carry a change, each sibling of an affected child has a 25% chance of being affected. Carrier testing for relatives, prenatal testing and preimplantation testing are possible once the changes are known. Care is supportive, with developmental, feeding and educational help and regular checks of the eyes, heart and growth.

The condition we analyse

Autosomal recessive

Caused by loss of function of both copies of UBE3B, an enzyme in the ubiquitin system that marks proteins for processing.

Signs and symptoms

Moderate to severe intellectual disability, low muscle tone, microcephaly and growth delay are typical. Characteristic features include narrow eye openings (blepharophimosis), droopy eyelids and other facial differences. Breathing problems and hearing loss are common, and low blood cholesterol has been reported. Less often there are seizures, heart or genital anomalies.

What a diagnosis changes

Developmental, feeding and educational support, with eye, heart and growth review. Carrier testing of relatives and genetic counselling are available.

Genes analysed

Also known as

blepharophimosis-ptosis-intellectual disability syndrome; BPIDS; KOS; severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet; severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet

MONDO:0009485OMIM 244450Orphanet 2707MedGen 343403Sources: [1][3][4]

Why whole genome sequencing

Kaufman oculocerebrofacial syndrome is recessive, so carrier status within the family and plans for future pregnancies are central to genetic advice.

The risk to later children is 1 in 4

When both parents are carriers, each further child has a 1 in 4 chance of being affected, a 1 in 2 chance of being a carrier, and a 1 in 4 chance of inheriting neither change. Genetic counselling and carrier testing of relatives are available.

Regular checks follow the diagnosis

Development, growth, vision and hearing are reviewed at least once a year. Seizures and breathing problems are checked at each visit, and contractures and scoliosis are looked for at least annually.

References

  1. Brabbing-Goldstein D, Basel-Salmon L, 2016. Kaufman Oculocerebrofacial Syndrome. GeneReviews
  2. Kaufman oculocerebrofacial syndrome. MedlinePlus Genetics
  3. Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK et al., 2014. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Human genetics
  4. UBE3B gene. MedlinePlus Genetics

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