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Betegségjelentés · Neurological

Primary Microcephaly 26 (LMNB1)

Whole genome sequencing reads the LMNB1 gene for new changes that cause primary microcephaly 26, a condition in which the head and brain are smaller than expected from before birth.

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

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A(z) condition ismertetése

A rare condition in which the head and brain are smaller than expected from before birth, usually with intellectual disability. It is caused by a new change in one copy of the LMNB1 gene, which supports the structure of the cell nucleus.

Primary microcephaly 26 is a rare condition in which the head and brain are smaller than expected from before birth. The microcephaly is often severe and is usually accompanied by developmental delay and intellectual disability of varying degree. Short stature is common. Some people also have a simplified pattern of folds on the surface of the brain and an abnormal corpus callosum on brain scans.

The condition is caused by a new change in one copy of the LMNB1 gene. LMNB1 makes lamin B1, a structural protein of the nuclear envelope, which is the membrane that surrounds the nucleus of a cell. It is important for dividing brain cells. Most changes arise new, and the condition is autosomal dominant, so a child can inherit a change from an affected parent.

Care focuses on developmental and educational support and on growth monitoring. Parental testing and genetic counselling guide the recurrence risk, even though most cases arise new.

A vizsgált betegség

Autoszomális domináns

Caused by changes in one copy of LMNB1 (lamin B1), a structural protein of the nuclear envelope important for dividing brain cells; most changes arise de novo. Extra copies (duplications) of LMNB1 cause a different, adult-onset leukodystrophy.

Tünetek és jelek

Microcephaly present from birth, often severe, with developmental delay and intellectual disability of variable degree. Short stature is common. Some people have a simplified pattern of the brain's surface and an abnormal corpus callosum on brain scans.

Mit változtat a diagnózis

Developmental and educational support and growth monitoring. Most cases arise de novo, but parental testing and genetic counselling guide recurrence risk.

Vizsgált gének

Más néven

MCPH26

MONDO:0030928OMIM 619179MedGen 1779629Források: [1][2][3]

Miért a teljes genom szekvenálás

Most cases of this condition arise from a new change, but parental testing still helps to guide recurrence risk. Whole genome sequencing reads LMNB1 in one test.

Two conditions from the same gene

Extra copies of LMNB1 cause a different condition, an adult-onset leukodystrophy that affects the white matter of the nervous system. The microcephaly described here is caused by changes in one copy of the gene and is a separate condition with its own features.

Growth and development are followed

Short stature is common, so growth is monitored over time alongside development. Developmental and educational support is the main part of care.

Hivatkozások

  1. Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M et al., 2020. De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. American journal of human genetics
  2. LMNB1 gene. MedlinePlus Genetics
  3. Raininko R, Gosky M, Padiath QS, 2016. LMNB1-Related Autosomal Dominant Leukodystrophy. GeneReviews

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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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