Kohlschütter Syndrome: Syndrome of Epilepsy - Dementia - Amelogenesis Imperfecta

Petermöller, M; Kunze, Jürgen; Gross-Selbeck, G

doi:10.1055/s-2008-1071567

Cited by 17 publications

(16 citation statements)

References 2 publications

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“…Affected siblings with Kohlschütter–Tönz syndrome have been recorded [Kohlschütter et al, 1974; Christodoulou et al, 1988; Petermöller et al, 1993; Zlotogora et al, 1993]. Origin of the family reported by Kohlschütter et al [1974], from adjacent valleys in central Switzerland, the family reported by Christodoulou et al [1988] from the same small town, our family from neighboring villages, and consanguinity reported by Zlotogora et al [1993] indicate autosomal recessive inheritance.…”

Section: Discussionmentioning

confidence: 99%

“…Kohlschütter–Tönz syndrome consists of amelogenesis imperfecta, yellow teeth, seizures, spasticity, and developmental delay. Additional manifestations variably include myopia, ventricular enlargement, vermis hypoplasia, dry skin, and broad thumbs/toes [Christodoulou et al, 1988; Petermöller et al, 1993; Zlotogora et al, 1993; Musumeci et al, 1995; Wygold et al, 1996]. Affected siblings in several instances and consanguinity in one family are consistent with autosomal recessive inheritance.…”

Section: Introductionmentioning

confidence: 99%

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Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome

Haberlandt

Svejda²,

Felber

et al. 2006

American J of Med Genetics Pt A

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We describe an 11-year-old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter-Tönz syndrome. Compared to other reported cases of the syndrome, our patient had less severe developmental delay. Also, spasticity and loss of mental capacity should not be considered obligatory manifestations of the syndrome because they are not present in half of reported patients, as well as in our family. Origin of the parents of our patient from neighboring villages supports autosomal recessive inheritance of Kohlschütter-Tönz syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome

Haberlandt

Svejda²,

Felber

et al. 2006

American J of Med Genetics Pt A

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“…Kohlschütter et al stellten bei einem Pneumenzephalogramm eine leichte Erweiterung der inneren Liquorräume fest [6]. Eine milde Atrophie wurde auch für andere Patienten berichtet [3,5,7,8]. Außerdem fand sich bei einzelnen Patienten entweder ein hypoplastischer Kleinhirnwurm oder eine Kleinhirnatrophie [3,5,7].…”

Section: Diskussionunclassified

Epileptische Enzephalopathie und Zahnschmelzdefekt (Kohlschütter-Tönz-Syndrom)

Schossig

Wolf

Koch³

et al. 2007

Medizinische Genetik

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Zusammenfassung Das Kohlschütter-Tönz-Syndrom ist eine seltene genetische Erkrankung, die mit neurologischen Symptomen – Epilepsie und schwere globale Entwicklungsstörung – sowie einer gestörten Zahnschmelzbildung einhergeht. Erstmals wurde 1974 eine Familie beschrieben, in der mehrere Jungen betroffen waren. Inzwischen sind auch Familien mit sowohl betroffenen Jungen als auch Mädchen bekannt. Dies macht eine autosomal-rezessive Vererbung des Syndroms wahrscheinlich, wobei eine genetische Heterogenität möglich bleibt. Verlauf und Ausprägung sind innerhalb der einzelnen Familien unterschiedlich. Ein verantwortlicher Gendefekt ist noch nicht bekannt, die Diagnose muss klinisch gestellt werden. Wir berichten über 3 neue Patienten im Vergleich zu bisher 21 mitgeteilten Fällen.

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“…So far, 24 individuals with the clinical diagnosis of KTS have been reported. [1][2][3][4][5][6][7][8][9] Pedigrees suggest an autosomal-recessive mode of inheritance, but genetic heterogeneity cannot be excluded. The molecular basis of KTS has not yet been elucidated.…”

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confidence: 99%

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

Schossig

Wolf

Fischer

et al. 2012

The American Journal of Human Genetics

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Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using a combination of autozygosity mapping and exome sequencing, we identified a homozygous frameshift deletion, c.229_230del (p.Leu77Alafs(∗)64), in ROGDI in two affected individuals from a consanguineous family. Molecular studies in two additional KTS-affected individuals from two unrelated Austrian and Swiss families revealed homozygosity for nonsense mutation c.286C>T (p.Gln96(∗)) and compound heterozygosity for the splice-site mutations c.531+5G>C and c.532-2A>T in ROGDI, respectively. The latter mutation was also found to be heterozygous in the mother of the Swiss affected individual in whom KTS was reported for the first time in 1974. ROGDI is highly expressed throughout the brain and other organs, but its function is largely unknown. Possible interactions with DISC1, a protein involved in diverse cytoskeletal functions, have been suggested. Our finding that ROGDI mutations cause KTS indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis.

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Kohlschütter Syndrome: Syndrome of Epilepsy - Dementia - Amelogenesis Imperfecta

Cited by 17 publications

References 2 publications

Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome

Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome

Epileptische Enzephalopathie und Zahnschmelzdefekt (Kohlschütter-Tönz-Syndrom)

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

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