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		ANAT 3311 Developmental Anomalies	Pig Homepage	Human Homepage

This section under construction

This area of research also called Teratology. [The is a Journal of Teratology]

• This will be available on Version 2 or may be updated on the actual Web Page. I am very keen to have this section available, but have been unable to transfer the majority of my Lecture notes and research material in time for the deadline.
• In the meantime, the list below is a general guide to some relevant reviews.
• Note that the genetic databases [Genbank] can now be searched by KEYWORD that will allow identification of specific diseases and their loci.

ANAT3311 Class Notes- Developmental Anomalies

Genetic Disorder	Journal Review Article
Hearing	1. Steel, K.P. and Brown, S.D.M. Trends in Genetics 10 428-435 (1994)

Hearing	Hearing is a complex physical and neurological process. Developmental loss of hearing can result from many different causes including genetic and viral infection (rubella weeks 7-8). These generate either structural or neurological abnormalities or loss. Auricular abnormalities may also be used as an indicator of abnormal organ development, without necessarily effecting hearing.
Origin	Mainly ectoderm and endoderm
Viral	Rubella infection during weeks 7-8 can effect formation of the spiral organ (of Corti)
Human Genetic Defects (modified from Ref 1, Table 1)	Disease Gene Protein Neuroepithelial Probably many but as yet unidentified Morphology Waardenburg syndrome type 1 PAX3 Paired-box transcription factor Grieg cephalopolysyndactyly syndrome GLI3 Zinc-Finger transcription factor Cochleo-saccular Waardenburg syndrome type 1 PAX3 Paired-box transcription factor Piebald trait KIT Tyrosine kinase receptor Late Onset X-Linked Alport Syndrome COL4A5 Collagen autosomal recessive Alport Syndrome COL4A3, COL4A4 Collagen Stickler syndrome COL2A1 Collagen Ostegenesis imperfecta COL1A1 COL1A2 Collagen Charcot-Marie-Tooth disease type 1A PMP22 Growth-controlling peripheral myelin protein Charcot-Marie-Tooth disease type 1B Po myelin glycolipid X-Linked Charcot-Marie-Tooth disease Cx32 Connexin 32 Cockayne Syndrome ERCC DNA excision repair protein Hunter syndrome IDS, SIDS Iduronate-2-sulphatase Hurler syndrome IDUA alpha-L-iduronidase Neurofibromatosis 2 NF2 Merlin, tumour suppressor protein Norrie disease NDP Crouzon syndrome FGFR2 fibroblast growth factor receptor Generalized resistance to Thyroid Hormone (autosomal recessive) bTRb Thyroid receptor protein Aminoglycosidase-induced deafness motochondrial 12S rRNA mitochondrial ribosomal component Diabetes mellitus (with hearing loss) motochondrial tRNA(Leu) tRNA Diabetes mellitus (with hearing loss) 7.6 Kb deletion mitochondrial genes Wolfram syndrome 10.4 Kb deletion mitochondrial genes
Auricular Abnormalities	Trisomy 18, Trisomy 13: low set, malformed ears Renal and heart disorders