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Betegségjelentés · Metabolic

MEND Syndrome (Male EBP Disorder with Neurological Defects)

Whole genome sequencing reads the EBP gene on the X chromosome for the changes that cause MEND syndrome, which affects intellectual development in boys and men and can involve the skin, skeleton and eyes.

A betegségjelentés olyan ritka variánsokat keres, amelyekről ismert, hogy okozzák az általa lefedett betegségeket.

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A(z) condition ismertetése

A rare X-linked condition in boys and men affecting cholesterol production, causing intellectual disability along with skin, skeletal and facial differences. It is caused by changes in the EBP gene.

MEND syndrome stands for male EBP disorder with neurological defects. It is an extremely rare X-linked condition that affects boys and men. Intellectual disability is the main feature, often with short stature, scoliosis, finger and toe differences, cataracts and skin abnormalities. The severity varies widely, even among affected members of the same family.

It is caused by changes in the EBP gene on the X chromosome. EBP makes an enzyme that carries out one of the final steps in making cholesterol. The changes reduce, but do not abolish, the enzyme's activity. Care focuses on developmental and educational support, seizure management, and eye, skin and skeletal checks.

It is inherited in an X-linked recessive way, and affected males inherit the change from carrier mothers. Each child of a carrier mother has a 1 in 2 chance of inheriting the change, and a son who inherits it is affected. Raised levels of cholesterol precursors in the blood can support the diagnosis, alongside the clinical picture and genetic testing.

A vizsgált betegség

X-kromoszómához kötött recesszív

MEND stands for male EBP disorder with neurological defects. It is caused by changes in the EBP gene on the X chromosome that reduce, but do not abolish, activity of an enzyme in cholesterol synthesis; affected males inherit the change from their mothers.

Tünetek és jelek

Intellectual disability, with a range of features that can include short stature, scoliosis, finger and toe differences, cataracts and skin abnormalities.

Mit változtat a diagnózis

Developmental and educational support, seizure management, and eye, skin and skeletal assessment. Diagnosis can be supported by finding raised cholesterol precursors in the blood. Carrier mothers have a 1 in 2 chance of passing the change to each child, so genetic counselling and carrier testing for female relatives can be offered.

Vizsgált gének

Más néven

Male EBP disorder with neurological defects; MEND; MEND syndrome, X-linked recessive

MONDO:0010498OMIM 300960Orphanet 401973MedGen 905986Források: [1][2][3]

Miért a teljes genom szekvenálás

MEND syndrome is X-linked, so the risk to a family depends on whether the mother carries the change.

Blood tests can support the diagnosis

Raised levels of cholesterol precursors in the blood can support the diagnosis, alongside the clinical picture and genetic testing. Diagnosis is one part of a plan that also includes eye, skin and skeletal assessment.

Carrier mothers and female relatives

Each child of a carrier mother has a 1 in 2 chance of inheriting the change, and a son who inherits it is affected. Genetic counselling and carrier testing can be offered to female relatives.

Hivatkozások

  1. Kumble S, Savarirayan R, 2011. EBP-Related X-Linked Chondrodysplasia Punctata. GeneReviews
  2. Arnold AW, Bruckner-Tuderman L, Has C, Happle R, 2012. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). The British journal of dermatology
  3. Bibi H, Ahmad R, Rahman F, Maqbool S, Naeem M, Efthymiou S et al., 2025. Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome). Molecular biology reports

További metabolic conditions

Minden feltétel →

Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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