Table 17 Metabolism

Abdulhag et al., 2015 [117]

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Hadassah-Hebrew University Medical Center, Jerusalem, Israel

1 Subject, 60 Controls

Palestinian

Case study

Hypotonia, cortical blindness

Symmetrical left ventricular hypertrophy tricuspid regurge and pulmonary hypertension

-

WES

Variant analysis, sanger sequencing

Mitochondrial inheritance

19q13.12 (COX6B1)

Cizmeci et al., 2013 [120]

Multiloculated hydrocephalus of intrauterine-onset: a case report of an unexpected MTHFR A1298C positive test result

Fatih University Medical School, Ankara, Turkey

1 Subject

-

Case study

Loculated hydrocephalus

Obstructive

-

-

-

1p36.22 (MTHFR A1298C homozygosity)

Schaaf et al., 2016 [384]

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature

Baylor College of Medicine, Houston, Texas, USA

1 Subject, 1 Control, 2 Parents

-

Case study

Macrocephaly, thickening of the tectum and massa intermedia, effaced gyral pattern, underopercularization, thin corpus callosum

Arthrogryposis, disorder of cholesterol biosynthesis, bilateral fifth finger clinodactyly, mild cutaneous 2–4 toe syndactyly, and proximal placement of the great toes, and dysmorphic facial features

Obstructive

TGS

-

De novo

1p32.3 (compound heterozygote for c.281G > A (p.R94H) and c.1438G > A (p.E480K) mutations in DHCR24 gene)

Schlotawa et al., 2011 [119]

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Georg August University Göttingen, Göttingen, Germany

7 Subjects, Controls used

USA, Turkey, Switzerland, Pakistan

Case series

Intellectual disability, neurodegeneration

Skeletal changes, cardiac involvement, corneal clouding, organomegaly

Communicating

TGS

-

AR

3p26.1 (SUMF1)