Table 10 Extracellular matrix defects

Balasubramanian et al., 2015 [77]

CRTAP mutation in a patient with Cole-Carpenter syndrome

Sheffield Children's NHS Foundation Trust, UK

1 Subject

Asian Pakistan

Case subject

Thoraco-lumbar scoliosis and sutural craniosynostosis

Osteogenesis imperfecta, bilateral limb deformities, joint hypermobility, prominent eyes with a proptotic appearance, greyish blue sclerae, and dentinogenesis imperfecta

Communicating

TGS

Variant analysis

-

3p22.3 (c.118G > T mutation in exon 1 of the CRTAP gene)

Çiftçi et al., 2003 [326]

Ligneous conjunctivitis, hydrocephalus, hydrocele, and pulmonary involvement in a child with homozygous type I plasminogen deficiency

University of Ankara Medical School, 06100, Dikimevi Ankara, Turkey

1 Subject, 2 Parents, 1 Control

Turkish

Case study

Isolated hydrocephalus

Tracheal pseudomembranes, bilateral hydrocele and unilateral inguinal hernia

Obstructive

TGS

SSCP, direct sequencing

AR

6q26 (L650fsX652 mutation (deletion of 2081C))

Cormand et al., 1999 [327]

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

University of Helsinki, Finland

12 Subjects, 27 Controls

Finnish, Turkish

Case series

Intellectual disability, polymicrogyria-pachygyria-type neuronal migration disorder of the brain

Ocular abnormalities, congenital muscular dystrophy

Communicating

Genotyping

Linkage analysis, haplotype analysis

AR

1p34.3 (COL8A2), 1p21.2 (VCAM1), 1p34.2 (PTPRF)

Cotarelo et al., 2008 [328]

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

Universidad Autónoma de Madrid, Madrid, Spain

2 Subjects, 3 Family Members

Ashkanazi Jewish, Spanish

Case series

Overriding cranial bones, monolobar holoprosencephaly, interhemispheric cyst, incomplete cleavage of the thalamus and corpora quadrigemina, an absent corpus callosum and rhombencephalic hypoplasia

Microphtalmia, atrial septal defect, double subaortic ventricular defect, hypoplastic left ventricle outlet, stenotic pulmonary valve and infundibular transposition of great vessels with no innominate vein, and retinal dysplasia

External and internal

TGS

Restriction endonuclease enzyme analysis, PCR

AR

9q31.2 (FKTN)

de Bernabé et al., 2003 [329]

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

University Medical Centre Nijmegen, Nijmegen, Netherlands

30 Subjects, 105 Controls

Japanese

Case series

Cobblestone lissencephaly with agenesis of the corpus callosum, fusion of hemispheres, hydrocephalus, dilatation of the fourth ventricle, cerebellar hypoplasia, hydrocephalus, and sometimes encephalocele

Eye malformations and congenital muscular dystrophy

Communicating

TGS

Linkage analysis, direct sequencing, SSCP

AR

9q31.2 (FKTN)

Horn et al., 2011 [330]

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

Charité-Universitätsmedizin Berlin, Berlin, Germany

1 Subject, 150 Controls

German

Case study

Psychomotor delay, hypotonia

Triangular facial shape, large head with a broad and prominent forehead, deep set eyes with proptosis, downward slanting palpebral fissures, and a high nasal bridge, highly arched palate and mild retrognathia, generalized lipodystrophy, long fingers and toes, bilateral pes valgus

-

TGS, cytogenetics

Karyotyping, aCGH

AD

15q21.1 (FBN1)

Kondo-lida et al., 1999 [331]

Novel mutations and genotype–phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)

Human Genome Center, Institute of Medical Science, University of Tokyo, Japan

19 Subjects, 50 Controls

Japanese

Case series

Intellectual delay micropolygyria, pachygyria and agyria

Congenital muscular dystrophy, eye abnormalities

Communicating

TGS

SSCP, direct sequencing

De novo

9q31, gene FCMD

Kroes et al., 2003 [78]

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

University Medical Center WKZ, Internal mail KC 04.084.2, Lundlaan 6, 3584 EA Utrecht, the Netherlands

2 Subjects

-

Case series

Macrocephaly

Blue sclerae, unilateral clubfoot, esophageal atresia, joint hyperlaxity

Communicating

TGS

-

-

2q32.2 (COL3A1)

Radmanesh et al., 2013 [332]

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

University of California, San Diego, CA, USA

2 Subjects, 200 Controls

Egyptian and Turkish

Case series

Cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele

Minor optic atrophy

Communicating

WES

Sanger sequencing

AR

7q31.1 (LAMB1)

Saito et al., 2000 [333]

Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy

Tokyo Women's Medical University, School of Medicine, Japan

56 Subjects, 82 Controls

Japanese

Case series

Cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia

Congenital muscular dystrophy, eye abnormalities

Communicating

Allelotyping

Haplotype analysis, microsatellite marker assay

AR

FCMD gene

Schott et al., 1998 [334]

Therapy with a purified plasminogen concentrate in an infant with ligneous conjunctivitis and homozygous plasminogen deficiency

Klinikum Mannheim, University of Heidelberg, Germany

1 Subject, 1 Control, 2 Parents, 1 Brother

Turkish

Case study

Macrocephalus

Pseudomembranous conjunctivitis, ligneous conjunctivitis

-

TGS

SSCP, cycle sequencing, restriction enzyme analysis

AR

6q26 (plasminogen gene (Glu460Stop mutation))

Schuster et al., 1997 [335]

Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis

Children's Hospital, University of Würzburg, Germany

2 Subjects, 2 Parents, 1 Sister, 1 Control

Turkish

Case study

Macrocephaly

Pseudomembranous lesions of other mucous membranes in the mouth, nasopharynx, trachea, and female genital tract

Obstructive

TES

SSCP, restriction enzyme analysis

AR

6q26 (Plasminogen gene)

Schuster et al., 1999 [336]

Prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus

Children's Hospital, University of Würzburg, Germany

1 Subject, 2 Parents, 1 Control

Turkish

Case study

Isolated hydrocephalus

Pseudomembranous conjunctivitis, ligneous conjunctivitis

Obstructive

TES

SSCP

AR

6q26 (Plasminogen gene)

Tonduti et al., 2015 [337]

Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations

Université Paris Diderot-Sorbonne Paris Cité and INSERM U1141-DHU Protect, Paris, France

2 Subjects, 100 Control

-

Case series

Cerebral palsy, epilepsy, spastic tetraplegia, intellectual disability

Lens opacification, optic atrophy

Unclear

WES

Sanger sequencing, segregation analysis

-

7q31.1 (LAMB1)

Van der Knaap et al., 2006 [338]

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

VU University Medical Center, Amsterdam, the Netherlands

3 Subjects, 192 Controls

Dutch

Case series

Leukoencephalopathy, porencephalic cysts, cerebral microangiopathies

Cataracts, blood vessel defects

Obstructive (blood, calcifications) vs. Porencephaly

-

-

AD

13q34 (mutation in the COL4A1)

Yang et al., 2017 [339]

Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case

The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China

1 Subject, 200 Controls

Chinese

Case study

Isolated hydrocephalus

Short limbs

-

WES

Sanger sequencing

-

9p22.3 (FREM1)